Abstract P6-02-14: Contralateral breast cancer risk in patients with or without BRCA mutation
Authors: Eunhye Kang, Ji-Jung Jung, Hyunsu Yeoh, Changjin Lim, Jang-il Kim, Jung Whan Chun, Hong-Kyu Kim, Han-Byoel Lee, Wonshik Han, Hyeong-Gon Moon
Journal: Cancer Research (2023)

Abstract Background: Patients who carry mutated BRCA1 or BRCA2 genes have a significantly increased risk of breast cancer and developing contralateral breast cancer (CBC). In this study, we aimed to investigate the acceptance rate of BRCA1/2 testing in Korean breast cancer patients and to determine the risk of CBC in Korean patients with BRCA 1/2 germline mutations. Methods: This study included 13,109 patients with first primary breast cancer who were treated at Seoul National University Hospital from January 2005 to December 2018. These patients were divided into high-risk for BRCA1/2 mutation group and low-risk group. High risk patients were defined as those who were eligible for BRCA testing per Korean National Health Insurance Service. The high-risk group was further classified into three groups; BRCA1/2 mutation carrier, BRCA 1/2 non carrier and BRCA/12 untested. Results: Among the 4,446 high-risk patients, 962 (21.7%) patients underwent BRCA1/2 testing. The testing rate varied among different indications (47.8% of patients with a family history, 23.3% of patients under 40 years of age, and 13.0% of patients with triple negative breast cancer). The risk of the CBC in BRCA mutation group was higher than other groups (p value &amp;lt; 0.001). The 10-year cumulative risk of CBC was 11.0% BRCA1 mutation carrier and 7.4% for BRCA2 mutation carrier. In the BRCA1/2 non-carriers, the cumulative risk of CBC was 5.7%. Interestingly, the CBC risk for BRCA1/2 non-carriers significantly higher than BRCA1/2 untested group and the low-risk group (p &amp;lt; 0.001). When compared to the BRCA1/2 untested group, the relative risk for CBC was 6.7-fold increase for the BRCA1/2 mutation carrier group (95% CI = 3.65-12.22, p &amp;lt; 0.001), and 2.3-fold increase for the BRCA1/2 non-carriers group (95% CI = 1.44-3.83, p &amp;lt; 0.001). The relative risk for CBC in high-risk group also depended on subtype of breast cancer and family history. Hormone receptor negative breast cancer patients had a 1.5-fold (95% CI = 1.02-2.31, p = 0.04) increased risk of CBC and patients with one or more 1st degree relative with breast cancer had 2.4-fold increased risk (95% CI = 1.55-3.67, p &amp;lt; 0.001). Conclusion: About one out of five Korean breast cancer patients, who are eligible for the BRCA1/2 testing, undergo testing for BRCA1/2 germline mutations. We observed increased CBC risk not only for the BRCA1/2 mutation carriers but also for the BRCA1/2 non-carriers. At present, we are conducting multi-gene panel testing for the BRCA1/2 non-carriers to understand the mechanisms of the increased CBC risk. Citation Format: Eunhye Kang, Ji-Jung Jung, Hyunsu Yeoh, Changjin Lim, Jang-il Kim, Jung Whan Chun, Hong-Kyu Kim, Han-Byoel Lee, Wonshik Han, Hyeong-Gon Moon. Contralateral breast cancer risk in patients with or without BRCA mutation [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P6-02-14.